SEVERE HYPERNATREMIC DEHYDRATION AS THE 1 ST MANIFESTATION OF NETHERTON SYNDROME IN A NEONATE

Background. Netherton's syndrome is characterized by ichthyosis, trich orrhexis invaginata and other air shaft anomalies, and atopic diathesi s. The ichthyosis is present at birth and can be complicated by hypern atremic dehydration. Case report. Adrien was the first child of non-co nsanguineous parents. His birth weight was 3 110 g. Ichthyosis was pre sent at birth and the diagnosis of Netherton's syndrome was subsequent ly confirmed by skin biopsy He was admitted to intensive care at the a ge of 4 days for a 20 % loss of weight and dehydration. His blood chem istry was: Na+ = 192 mmol/l, K+ = 6.9 mmol/l, Cl- = 136 mmol/l, urea = 21 mmol/l, glucose = 12.1 mmol/l, creatinine = 209 mumol/l, hematocri t = 51 %. Urinary analysis gave: Na+ = 113 mmol/l, K+ = 97 mmol/l, ure a = 105 mmol/l. Progressive rehydration resulted in normal diuresis 24 hours later and a slow normalization of natremia to 138 mmol/l on day 10. Despite preventive IV phenobarbital, he developed convulsions on day 5 when his natremia was 177 mmol/l i.e. after a drop of 0.6 mmol/h our. The convulsions disappeared when he was given phenytoin and place d on respiratory support, but status epilepticus appeared on day 18 wi th normal natremia. This status epilepticus was not influenced by seve ral antiepileptic drugs and was only cured when the patient was given tetracosactide followed by hydrocortisone plus sodium valproate. Adrie n is now 3 years old and is neurologically and mentally normal. Conclu sion. Hypernatremic dehydration can be a complication of neonatal icht hyosis, it may be severe with very high blood sodium concentration. Co rticosteroids can be useful for treating persistent convulsions.